ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1356A>G (p.Glu452=)

gnomAD frequency: 0.00001  dbSNP: rs63751212
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164340 SCV000214972 likely benign Hereditary cancer-predisposing syndrome 2020-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000679286 SCV000517271 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17095871)
PreventionGenetics, part of Exact Sciences RCV000679286 SCV000805994 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164340 SCV000903498 likely benign Hereditary cancer-predisposing syndrome 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001082605 SCV001006621 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000164340 SCV002528838 likely benign Hereditary cancer-predisposing syndrome 2021-02-13 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003997146 SCV004831029 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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